Canonical Allele Identifier: CA372789033

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 495133
• ClinVar RCV Id: RCV000585737
• dbSNP Id: rs1314729940
• MyVariant Identifiers: chr9:g.2116003G>C (hg19) ; chr9:g.2116003G>C (hg38)
• PubMed: PMID:29610392

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116003G>C , CM000671.2:g.2116003G>C	GRCh38
NC_000009.11:g.2116003G>C , CM000671.1:g.2116003G>C	GRCh37
NC_000009.10:g.2106003G>C	NCBI36
NG_032162.1:g.105662G>C
NG_032162.2:g.140714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3278G>C	ENSP00000515861.1:p.Arg1093Pro
ENST00000704352.1:c.1174-45683G>C	ENSP00000515863.1:n.1174-45683G>C
ENST00000704353.1:c.1174-45683G>C	ENSP00000515864.1:n.1174-45683G>C
ENST00000704354.1:c.3622G>C
ENST00000704355.1:c.2002G>C
ENST00000349721.8:c.3638G>C MANE Select	ENSP00000265773.5:p.Arg1213Pro
ENST00000357248.8:c.3638G>C	ENSP00000349788.2:p.Arg1213Pro
ENST00000635739.1:n.2306G>C
ENST00000636157.1:n.1245G>C
ENST00000638139.1:n.672G>C
ENST00000349721.7:c.3638G>C	ENSP00000265773.5:p.Arg1213Pro
ENST00000357248.7:c.3638G>C	ENSP00000349788.2:p.Arg1213Pro
ENST00000382194.6:c.3638G>C	ENSP00000371629.1:p.Arg1213Pro
ENST00000382203.5:c.3638G>C	ENSP00000371638.1:p.Arg1213Pro
ENST00000450198.6:c.3464G>C	ENSP00000392081.2:p.Arg1155Pro
ENST00000634760.1:c.3638G>C	ENSP00000489256.1:p.Arg1213Pro
ENST00000634772.1:c.62-3455G>C
ENST00000634925.1:n.1129G>C
NM_001289396.1:c.3638G>C	NP_001276325.1:p.Arg1213Pro
NM_001289397.1:c.3464G>C	NP_001276326.1:p.Arg1155Pro
NM_003070.4:c.3638G>C	NP_003061.3:p.Arg1213Pro
NM_139045.3:c.3638G>C	NP_620614.2:p.Arg1213Pro
NM_003070.5:c.3638G>C MANE Select	NP_003061.3:p.Arg1213Pro
NM_001289397.2:c.3464G>C	NP_001276326.1:p.Arg1155Pro
NM_139045.4:c.3638G>C	NP_620614.2:p.Arg1213Pro